Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>

Severe Peripheral Joint Laxity is a Distinctive Clinical Feature of Spondylodysplastic-Ehlers-Danlos Syndrome (EDS)-<i>B4GALT7</i> and Spondylodysplastic-EDS-<i>B3GALT6</i>

Variations in genes encoding for the enzymes responsible for synthesizing the linker region of proteoglycans may result in recessive conditions known as &#8220;linkeropathies&#8221;. The two phenotypes related to mutations in genes <i>B4GALT7</i> and <i>B3GALT6</i> (e...

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Bibliographic Details
Main Authors: Stefano Giuseppe Caraffi, Ilenia Maini, Ivan Ivanovski, Marzia Pollazzon, Sara Giangiobbe, Maurizia Valli, Antonio Rossi, Silvia Sassi, Silvia Faccioli, Maja Di Rocco, Cinzia Magnani, Belinda Campos-Xavier, Sheila Unger, Andrea Superti-Furga, Livia Garavelli
Format: Article
Language:English
Published: MDPI AG 2019-10-01
Series:Genes
Subjects:
beta-1,3-galactosyltransferase 6 (<i>b3galt6)</i>
beta-1,4-galactosyltransferase 7 (<i>b4galt7)</i>
spondyloepimetaphyseal dysplasia with joint laxity (semdjl1
semdjl-beighton type)
ehlers–danlos syndrome (eds)
spondylodysplastic ehlers–danlos syndrome (speds)
speds-<i>b3galt6</i>
speds-<i>b4galt7</i>
extreme laxity of distal joints
soft
doughy skin on the hands and feet
Online Access:https://www.mdpi.com/2073-4425/10/10/799

Internet

https://www.mdpi.com/2073-4425/10/10/799

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